ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1304C>T (p.Thr435Met)

gnomAD frequency: 0.00001  dbSNP: rs199935488
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530599 SCV000650891 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384209 SCV002693734 uncertain significance Cardiovascular phenotype 2023-08-17 criteria provided, single submitter clinical testing The p.T435M variant (also known as c.1304C>T), located in coding exon 8 of the FLNC gene, results from a C to T substitution at nucleotide position 1304. The threonine at codon 435 is replaced by methionine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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